ClinVar Miner

List of variants in gene SYNGAP1 reported by GenomeConnect - Simons Searchlight

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala) rs777482147 0.00002
NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys) rs1226494061 0.00001
NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) rs1760893537
NM_006772.3(SYNGAP1):c.1676+5G>T rs1760935231
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter) rs1554122400
NM_006772.3(SYNGAP1):c.3408+1G>T rs1554122402
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.435_447dup (p.Leu150fs) rs1777196665
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn) rs998489108
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978

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